Author

J. Alex Mazzone

Massachusetts Eye and Ear Infirmary

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Genomics· 1

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Benyam KindeiD· 1 shared Caitlin Finn· 1 shared Dana Schlegel· 1 shared Daniel Navarro-Gomez· 1 shared Emily PlaceiD· 1 shared Eric A. PierceiD· 1 shared Erin ZampaglioneiD· 1 shared Farzad JamshidiiD· 1 shared

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2020-2020 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Benyam KindeORCID

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1 paper

Recent·Most cited

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

Erin Zampaglione, Benyam Kinde, Emily Place, Daniel Navarro-Gomez, Matthew Maher, Farzad Jamshidi, Sherwin Nassiri, J. Alex Mazzone, Caitlin Finn, Dana Schlegel, Jason Comander, Eric A. Pierce, Kinga M. Bujakowska

The paper identifies copy-number variations (CNVs) as a significant contributor to unsolved inherited retinal degeneration (IRD) cases, increasing the genetic diagnostic rate through NGS-based CNV detection.

Genetics in Medicine · Feb 9, 2020Peer-reviewedGenomics